期刊
JOURNAL OF PEDIATRICS
卷 158, 期 1, 页码 46-51出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2010.07.031
关键词
-
类别
资金
- Department of Health and Human Services
- Maternal and Child Health Bureau [H18MC-00004-11]
- Health Resources and Services Administration,
Objectives To use genotype analysis to determine the prevalence of the c.1436C -> T sequence variant in carnitine palmitoyltransferase 1A (CPT1A) among Alaskan infants, and evaluate the sensitivity of newborn screening by tandem mass spectrometry (MS/MS) to identify homozygous infants. Study design We compared MS/MS and DNA analyses of 2409 newborn blood spots collected over 3 consecutive months. Results Of 2409 infants, 166 (6.9%) were homozygous for the variant, all but one of whom were of Alaska Native race. None of the homozygous infants was identified by MS/MS on the first newborn screen using a C0/C16 + C18 cutoff of 130. Among 633 Alaska Native infants, 165 (26.1%) were homozygous and 218 (34.4%) were heterozygous for the variant. The prevalence was highest in Alaska's northern/western regions (51.2% of 255 infants homozygous; allele frequency, 0.7). Conclusions The CPT1A c.1436C -> T variant is prevalent among some Alaska Native peoples, but newborn screening using current MS/MS cutoffs is not an effective means to identify homozygous infants. The clinical consequences of the partial CPT1A deficiency associated with this variant are unknown. If effects are substantial, revision of newborn screening, including Alaska-specific MS/MS cutoffs and confirmatory genotyping, may be needed. (J Pediatr 2011; 158: 46-51).
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据